I. Gómez Manjón

First patient with mosaic NOTCH3 gene pathogenic variant. Unrevealed mosaicisms and importance of their detection

Juan Francisco Quesada Espinosa, M. Moreno-García, A. Méndez-Guerrero, 2020, American journal of medical genetics. Part A.

Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2

Miguel Ángel Martín, M. Moreno-García, A. Arteche-López, 2021, European Journal of Human Genetics.